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Publications about genetic testing for neurological disorders
  1. Extension of rare disease therapeutic options

Extension of rare disease therapeutic options

June 28, 2019

A therapy with miglustat, 2-hydroxypropyl-beta-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1.

Treatment options for rare genetic diseases are often tested in cellular or animal models. CENTOGENE happily supports such projects in collaborative research settings. A recent example relates to a novel therapeutic cocktail for Niemann-Pick disease. Promising preliminary data were obtained in a mouse model, and published in Lipids in Health and Disease.